PGS Publication: PGP000369

Publication Information (EuropePMC)
Title Contribution of Common Genetic Variants to Risk of Early Onset Ischemic Stroke
doi 10.1212/WNL.0000000000201006
Publication Date Aug. 31, 2022
Journal Neurology
Author(s) Jaworek T, Xu H, Gaynor BJ, Cole JW, Rannikmae K, Stanne TM, Tomppo L, Abedi V, Amouyel P, Armstrong ND, Attia J, Bell S, Benavente OR, Boncoraglio GB, Butterworth A, Carcel-Marquez J, Chen Z, Chong M, Cruchaga C, Cushman M, Danesh J, Debette S, Duggan DJ, Durda JP, Engstrom G, Enzinger C, Faul JD, Fecteau NS, Fernandez-Cadenas I, Gieger C, Giese AK, Grewal RP, Grittner U, Havulinna AS, Heitsch L, Hochberg MC, Holliday E, Hu J, Ilinca A, Irvin MR, Jackson RD, Jacob MA, Janssen RR, Jimenez-Conde J, Johnson JA, Kamatani Y, Kardia SL, Koido M, Kubo M, Lange L, Lee JM, Lemmens R, Levi CR, Li J, Li L, Lin K, Lopez H, Luke S, Maguire J, McArdle PF, McDonough CW, Meschia JF, Metso T, Muller-Nurasyid M, Connor TD, Donnell M, Peddareddygari LR, Pera J, Perry JA, Peters A, Putaala J, Ray D, Rexrode K, Ribases M, Rosand J, Rothwell PM, Rundek T, Ryan KA, Sacco RL, Salomaa V, Sanchez-Mora C, Schmidt R, Sharma P, Slowik A, Smith JA, Smith NL, Wassertheil-Smoller S, Soederholm M, Stine OC, Strbian D, Sudlow CL, Tatlisumak T, Terao C, Thijs V, Torres-Aguila NP, Tregouet DA, Tuladhar AM, Veldink JH, Walters RG, Weir DR, Woo D, Worrall BB, Hong CC, Ross O, Zand R, de Leeuw FE, Lindgren AG, Pare G, Anderson CD, Markus HS, Jern C, Malik R, Dichgans M, Mitchell BD, Kittner SJ, the Early Onset Stroke Genetics Consortium of the International Stroke Genetics Consortium (ISGC).
Released in PGS Catalog: Sept. 29, 2022

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
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Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported

External PGS Evaluated By This Publication

Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution Scoring File (FTP Link)
PGS000043
(PRS_VTE)
PGP000030 |
Klarin D et al. Nat Genet (2019)
Venous thromboembolism venous thromboembolism 297
-
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000043/ScoringFiles/PGS000043.txt.gz

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM)
Evaluated Score PGS Sample Set ID
(PSS)
Performance Source Trait PGS Effect Sizes
(per SD change)
Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM014990 PGS000043
(PRS_VTE)
PSS009948|
Multi-ancestry (including European)|
615,967 individuals
PGP000369 |
Jaworek T et al. Neurology (2022)
|Ext.
Reported Trait: Early onset stroke OR: 1.13 [1.1, 1.16] 10 principal components for ancestry and sex
PPM014991 PGS000043
(PRS_VTE)
PSS009948|
Multi-ancestry (including European)|
615,967 individuals
PGP000369 |
Jaworek T et al. Neurology (2022)
|Ext.
Reported Trait: Late onset stroke OR: 1.04 [1.01, 1.08] 10 principal components for ancestry and sex

Evaluated Samples

PGS Sample Set ID
(PSS)
Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS009948
[
  • 16,730 cases
  • , 599,237 controls
]
African unspecified, European, Hispanic or Latin American, African American or Afro-Caribbean, Asian unspecified Africa, European, Hispanics, Afro-Carribean, Pan-Asian BBJ, EPIC_CAD, GMC, RACE, UKB HELSINKI